title: Effectiveness of oral iron chelator treatment with deferasirox in an aceruloplasminemia patient with a novel ceruloplasmin gene mutation.
abstract: A 59-year-old man presented with refractory anemia, choreoathetosis in the left upper extremity, an unsteady gait and cognitive dysfunction. The laboratory findings showed a marked decrease in ceruloplasmin. Magnetic resonance images revealed iron deposition in the brain and visceral organs. Iron accumulation was also observed in hepatocytes. Genetic analyses of the ceruloplasmin gene revealed a novel homozygous mutation of c.2185 delC in exon 12. The oral chelator deferasirox was effective in treating the left-side choreoathetosis and unsteady gait. Providing early treatment using deferasirox may be useful for preventing the progression of symptomatic neurological dysfunction.
authors.affiliation: Department of Neurology, Asahikawa Medical Center, Japan. ysuzuki@asahikawa.hosp.go.jp
authors.forename: Yasuhiro
authors.initials: Y
authors.lastname: Suzuki
authors.forename: Kosuke
authors.initials: K
authors.lastname: Yoshida
authors.forename: Yoko
authors.initials: Y
authors.lastname: Aburakawa
authors.forename: Kenji
authors.initials: K
authors.lastname: Kuroda
authors.forename: Takashi
authors.initials: T
authors.lastname: Kimura
authors.forename: Tatsuhiro
authors.initials: T
authors.lastname: Terada
authors.forename: Satoshi
authors.initials: S
authors.lastname: Kono
authors.forename: Hiroaki
authors.initials: H
authors.lastname: Miyajima
authors.forename: Osamu
authors.initials: O
authors.lastname: Yahara
mesh_terms: D000284:Administration, Oral; D001565:Benzoates / Q000008:administration & dosage*; D002570:Ceruloplasmin / Q000172:deficiency* / Q000235:genetics*; D000077588:Deferasirox; D006801:Humans; D007502:Iron Chelating Agents / Q000008:administration & dosage*; D019189:Iron Metabolism Disorders / Q000175:diagnosis / Q000188:drug therapy* / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D019636:Neurodegenerative Diseases / Q000175:diagnosis / Q000188:drug therapy* / Q000235:genetics*; D016896:Treatment Outcome; D014230:Triazoles / Q000008:administration & dosage*
chemical_list: D001565:Benzoates; D007502:Iron Chelating Agents; D014230:Triazoles; D002570:Ceruloplasmin; D000077588:Deferasirox